Objective To observe the surgical outcome of the modified transconjunctival technique for minimal segmental buckling on rhegmatogenous retinal detachment (RRD). Methods This is a retrospective case series. Seventy-six patients (78 eyes) with uncomplicated RRD who underwent the modified transconjunctival technique for minimal segmental buckling were enrolled in this study. There were 41 male (42 eyes) and 35 female (36 eyes). The average age was (33.9±15.6) years. Best corrected vision acuity (BCVA), fundus examination with three-mirrors lens, ocular B ultrasound, optical coherence tomography (OCT) were performed in all patients. BCVA was examined through Standard logarithmic visual acuity chart and transferred to logMAR vision for statistical analysis. The logMAR BCVA was 0.88±0.88. The technique was successfully performed in all 78 eyes. After transconjunctival location of the retinal break was made, a 5 to 6 mm radial conjunctival incision was performed corresponding to the retinal break without cutting the limbal conjunctiva–Tenon’s capsule. After cryopexy, a minimal explant was fixed with one to two sutures through the conjunctival opening, expanded by a pediatric speculum. BCVA, intraocular pressure, tear film stability, conjunctival recovery and retinal reattachment were collected 1 week, 1 month, 3 months, 6 months after surgery. Results One week after surgery, retinal reattachments were achieved in 77 of 78 (98.7%) eyes and 1 eye (1.3%) received vitrectomy. Compared before surgery, the logMAR BCVA improved to 0.44±0.41, with significant difference (t=3.092, P＜0.01). Conjunctival incision tear occurred in 1 eye. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Hemorrhage was absorbed in 2 of the 5 eyes at 3 months after surgery and absorbed in all 5 eyes at 6 months after surgery. Subretinal fluid occurred in 10 eyes at 1 week after surgery and be absorbed completely at 6 months after surgery. Tear film stability improved to preoperative lever at 1 week after surgery. Less change in corneal and conjunctival sensitivity was observed in all eyes. No other surgical complications were observed within the follow-up period, such as scleral perforation, explant extrusion, diplopia or infection. Conclusions The modified transconjunctival technique for minimal segmental buckling minimizes the damage to conjunctiva without reducing the retinal reattachment rate. It can effectively treat uncomplicated RRD with preserving an intact limbal conjunctiva and rapid tear film stability recovery.
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2. Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification. Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G＞ A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype. Conclusions The mutation of c.701G＞ A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.